{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:28:46Z","timestamp":1792798126296,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Labex GR-Ex","award":["ANR-11-LABX-0051"],"award-info":[{"award-number":["ANR-11-LABX-0051"]}]},{"name":"Takeda\/Shire Company"},{"name":"\u201cInvestissements d\u2019avenir\u201d program of the French National Research Agency","award":["ANR-11-IDEX-0005-02"],"award-info":[{"award-number":["ANR-11-IDEX-0005-02"]}],"id":[{"id":"https:\/\/ror.org\/00rbzpz17","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Gaucher disease (GD) is a genetic disease with mutations in the\n                    <jats:italic>GBA<\/jats:italic>\n                    gene that encodes glucocerebrosidase causing complications such as anaemia and bone disease. GD is characterized by accumulation of the sphingolipids (SL) glucosylceramide (GL1), glucosylsphingosine (Lyso\u2010GL1), sphingosine (Sph) and sphingosine\u20101\u2010phosphate (S1P). These SL are increased in the plasma of GD patients and the associated complications have been attributed to the accumulation of lipids in macrophages. Our recent findings indicated that red blood cells (RBCs) and erythroid progenitors may play an important role in GD pathophysiology. RBCs abnormalities and dyserythropoiesis have been observed in GD patients. Moreover, we showed higher SL levels in the plasma and in RBCs from untreated GD patients compared with controls. In this study, we quantified SL in 16 untreated GD patients and 15 patients treated with enzyme replacement therapy. Our results showed that the treatment significantly decreases SL levels in the plasma and RBCs. The increased SL content in RBCs correlates with abnormal RBC properties and with markers of disease activity. Because RBCs lack glucocerebrosidase activity, we investigated how lipid overload could occur in these cells. Our results suggested that SL overload in RBCs occurs both during erythropoiesis and during its circulation in the plasma.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.15534","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T21:44:28Z","timestamp":1596836668000},"page":"9726-9736","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Effects of sphingolipids overload on red blood cell properties in Gaucher disease"],"prefix":"10.1111","volume":"24","author":[{"given":"Lucie","family":"Dupuis","sequence":"first","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Chipeaux","sequence":"additional","affiliation":[{"name":"CNRS Institut de Chimie Physique UMR 8000 Universit\u00e9 Paris\u2010Saclay Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Bourdelier","sequence":"additional","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suella","family":"Martino","sequence":"additional","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Reihani","sequence":"additional","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"AP\u2010HP, CRML Maladies Lysosomales Service de M\u00e9decine Interne H\u00f4pital Beaujon Universit\u00e9 de Paris Clichy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Billette de Villemeur","sequence":"additional","affiliation":[{"name":"APHP.6 CRML Maladies Lysosomales Service de Neurop\u00e9diatrie, H\u00f4pital Trousseau Sorbonne Universit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Hivert","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie H\u00f4pital Saint Vincent de Paul GHICL Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fathi","family":"Moussa","sequence":"additional","affiliation":[{"name":"CNRS Institut de Chimie Physique UMR 8000 Universit\u00e9 Paris\u2010Saclay Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Le Van Kim","sequence":"additional","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"de Person","sequence":"additional","affiliation":[{"name":"CNRS Institut de Chimie Physique UMR 8000 Universit\u00e9 Paris\u2010Saclay Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6519-4131","authenticated-orcid":false,"given":"M\u00e9lanie","family":"Franco","sequence":"additional","affiliation":[{"name":"UMR_S1134 BIGR, Inserm Institut National de Transfusion Sanguine Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24063"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-02-205708"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-442467"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2011.0365"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1200941109"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1003308107"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2015.05.009"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24816"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.147546"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.177816"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2014.01.005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-352971"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1400768111"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24491"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chroma.2017.10.038"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.2003.00293.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24055"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0079732"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1612"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117084"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2019.05.018"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-03-774356"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature24053"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/bph.14451"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrd4099"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13475"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjcmm.15534","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.15534","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcmm.15534","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.15534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T13:30:31Z","timestamp":1693747831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.15534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,7]]},"references-count":26,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/jcmm.15534"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.15534","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,7]]},"assertion":[{"value":"2020-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}